Primary hyperparathyroidism in children and adolescents is rare and often symptomatic at presentation. A 15-year-old boy presented with bilateral genu valgum for two years. Biochemical results were consistent with primary hyperparathyroidism. Calcium levels normalized two months after removal of a left inferior parathyroid adenoma.
parathyroid neoplasms ; genu valgum ; adolescent ; Hyperparathyroidism, Primary

A closing wedge distal femoral osteotomy is a procedure to reduce pain and delay the progression of degenerative arthritis of knee by moving the weight bearing line from the lateral compartment to the medial side while preserving the knee joint. Age, weight bearing line, and the degree of arthritis are the essential factors to be considered at the time of surgery. The indications for distal femoral osteotomy are as follows. All patients are aged less than 65 years old, normal medial compartment of the knee with normal patello femoral joint, valgus deformity with lateral degenerative arthritis, younger patients with lateral osteochondritis, congenital osteochondrosis, and recurrent patellar dislocation with genu valgum. The distal femoral osteotomy provides the advantages of rapid pain reduction and short rehabilitation in young and active patients and patients who are subjected to heavy loads on the knee.
Arthritis ; Congenital Abnormalities ; Femur* ; Genu Valgum ; Humans ; Joints ; Knee ; Knee Joint ; Osteoarthritis ; Osteochondritis ; Osteochondrosis ; Osteotomy* ; Patellar Dislocation ; Rehabilitation ; Weight-Bearing

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short stature. He had received medical treatment with vitamin D (alfacalcidol) and phosphate from the age of 3 to 20 years. He underwent surgery due to valgus deformity at the age of 14 and 15. Targeted gene panel sequencing for Mendelian genes identified a nonsense mutation in PHEX (c.589C>T; p.Gln197Ter) and a mosaic pattern where only 38% of sequence reads showed the variant allele. This mutation was not found in his mother, who had a normal phenotype. This is a case of a sporadic nonsense mutation in PHEX and up to date, this is the first case of a mosaic mutation in PHEX in Korea.
Adult ; Alleles ; Codon, Nonsense ; Congenital Abnormalities ; Familial Hypophosphatemic Rickets ; Genu Valgum ; Humans ; Korea ; Mothers ; Phenotype ; Rickets, Hypophosphatemic* ; Vitamin D

PURPOSE: Recurrent patellar dislocation is often associated with genu valgum. The purpose of this study was to analyze the short-term results of single-incision, closing-wedge distal femoral osteotomy (CWDFO) combined with medial reefing and lateral release for recurrent patellar instability with genu valgum. MATERIALS AND METHODS: Combined CWDFO/medial reefing/lateral release was performed on 10 knees. Clinical evaluation was based on pre- and postoperative Knee Society Score (KSS) and Kujala patellofemoral score. Radiographic evaluation was performed with reference to the weight-bearing line (WBL), the femorotibial angle (FTA), and the mechanical lateral distal femoral angles in the knee-standing view. RESULTS: At a mean follow-up of 20±11.7 months (range, 12–42 months), KSS scores improved significantly, from 46.7±5.2 preoperatively to 87±4.4 postoperatively (p<0.001), as did the Kujala score, from 44±8 preoperatively to 86.6±6.8 postoperatively (p<0.001). The WBL decreased significantly, from 76±7% preoperatively to 41±11% postoperatively (p<0.001). The FTA was improved significantly, from 12.7±1.7° preoperatively to 4±4° postoperatively (p<0.001), as was the mLDFA, from 83±4° preoperatively to 91±1.3° postoperatively (p<0.001). CONCLUSION: Use of single-incision CWDFO combined with medial reefing and lateral release prevents patellar dislocation, corrects deformity, and improves clinical outcomes.
Congenital Abnormalities ; Follow-Up Studies ; Genu Valgum* ; Knee ; Osteotomy* ; Patellar Dislocation* ; Weight-Bearing

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical and biochemical features of VDDR1A were found, such as hypocalcemia, increased alkaline phosphatase, secondary hyperparathyroidism and normal 25-hydroxyvitamin D3 (25(OH)D₃). Radiographic images of the wrist showed metaphyseal widening with cupping and fraying of the ulna and distal radius, suggesting rickets. A mutation analysis of the CYP27B1 gene identified a homozygous mutation of c.589+1G>A in the splice donor site in intron 3, which was known to be pathogenic. Since that time, the patient has been under calcitriol and calcium treatment, with normal growth and development. During the follow-up period, she did not develop genu valgum, scoliosis, or nephrocalcinosis.
25-Hydroxyvitamin D3 1-alpha-Hydroxylase* ; Alkaline Phosphatase ; Calcifediol ; Calcitriol ; Calcium ; Female ; Follow-Up Studies ; Genu Valgum ; Growth and Development ; Humans ; Hyperparathyroidism, Secondary ; Hypocalcemia ; Introns ; Nephrocalcinosis ; Radius ; Rickets* ; RNA Splice Sites ; Scoliosis ; Seizures ; Ulna ; Vitamin D* ; Vitamins* ; Wrist

OBJECTIVE: To explore the efficacy and experience of callus distraction technique with the external fixator for valgus deformity of the knee companied with leg shortening in young patients and to provide evidence for selecting reasonable therapy. METHODS: From January 2002 to January 2009, the clinical data of 28 young patients (17 males and 11 females, aged 8 to 14, mean age 11.9 years) treated with callus distraction, who had valgus deformity of the knee, companied with leg shortening, were analyzed retrospectively. Three had bilateral total valgus deformity of the knee, with a total of 31 knees. Before the operation, the abnormal limbs shortened from 3 to 7 cm (average 4.1 cm) companied with the normal one. The tibiofemoral angle ranged from 138° to 160° (mean angle 148°) and the Condyle interval from 5 to 33 cm (mean interval 15.2 cm). RESULTS: The 28 patients were followed up for 35 to 84 ( mean 62 ) months. The extent length ranged from 4.5 to 10.1 cm (average 6.8 cm). The tibiofemoral angle ranged from 169° to 175° (mean 173°) after the union. The patients resumed the normal length of limbs, and the severe valgus deformity of the knee was corrected. CONCLUSION Callus distraction with external fixator is effective for serious valgus deformity of the knee companied with leg shortening.
Adolescent ; Child ; External Fixators ; Female ; Genu Valgum ; complications ; surgery ; Humans ; Ilizarov Technique ; Leg Length Inequality ; complications ; surgery ; Male ; Osteogenesis, Distraction ; methods

Habitual dislocation of patella is a rare disorder. Sometimes it is associated with angular deformity such as genu valgum. We experienced habitual patella dislocation associated with genu valgum that was treated with corrective osteotomy of distal femur and soft tissue realignment procedure including lateral release and medial reefing.
Congenital Abnormalities ; Dislocations ; Femur ; Genu Valgum ; Osteotomy ; Patella

BACKGROUND: The hemiepiphyseal stapling has both positive and negative effects on effective leg length. The purpose of this study was to analyze change in effective leg length after angular correction by hemiepiphyseal stapling, and to validate in clinical cases. METHODS: Mathematical analysis of a hemiepiphyseal stapling model was conducted. The induced formula was validated in 6 cases fulfilling the assumptions of the model. Anatomical parameters involved in this formula were measured in additional 21 cases undergoing hemiepiphyseal stapling or hemiepiphysiodesis. RESULTS: Effective leg length increased or decreased according to three parameters in this model: 1) limb length distal to the operated physis (L), 2) width of the operated physis (d), and 3) the amount of angular deformity to be corrected (theta). Actual change in effective leg length of 6 cases similar to this model coincided with the predicted change at least in its direction. L/d ratio was 4.82 +/- 0.51. CONCLUSIONS: Considering the narrow range of the L/d ratio, hemiepiphyseal stapling is likely to decrease effective leg length if the amount of angular correction is less than 10degrees, whereas to increase it if the amount of angular correction is larger than 16degrees. This should be taken into consideration when selecting the surgical method for angular deformity correction in skeletally immature patients.
Adolescent ; Child ; Epiphyses/growth & development/*surgery ; Female ; Genu Valgum/*surgery ; Genu Varum/*surgery ; Humans ; Leg Length Inequality/diagnosis/*etiology ; Male ; *Surgical Stapling/adverse effects

PURPOSE: We analyzed the results of lateral retinacular release(LRR) and proximal realignment for recurrent patellar instability after trauma according to the anatomical predisposing factors. MATERIALS AND METHODS: Twelve patients of fifteen cases of recurrent patellar instability had been evaluated. Clinical assessment were performed by Q-angle, apprehension test, passive patellar tilt test and general joint laxity. The anatomical predisposing factors assessed by plain radiographs included patella alta, sulcus angle, femoral trochlear dysplasia, genu valgum and patellar dysplasia. Clinical results were assessed by Kujala scoring system. Radiographic results were assessed by congruence angle. The results were analyzed according to the predisposing factors. RESULTS: Patella alta was observed in eight, increased sulcus angle in six, trochlear dysplasia in twelve, genu valgum in five and patella dysplasia in four cases. The result of treatment (Kujala score / congruence angle) was 85.8 / 9.7degrees in group A(predisposing factors > or = 3) and 91.4 / -5.3degrees in group B (predisposing factors<3)(p=0.036). We had 4 cases of recurrence after operation and genu valgum was related with recurrence rate. CONCLUSION: The clinical results of LRR and proximal realignment for recurrent patellar instability developed after trauma were worse in cases with more anatomical predisposing factors.
Causality* ; Genu Valgum ; Humans ; Joint Instability ; Patella ; Recurrence

Purpose: Genu valgum in Legg-Calve-Perthes disease (LCPD) is not a known complication. We investigated whether this valgus tendency is a complication of femoral varus osteotomy (FVO) or the sequela of the disease process itself, and what are the related factors. Materials and Methods: 35 patients treated by FVO and 38 by abduction orthosis (AO) were selected for this study. Only those patients with unilateral involvement, fragmentation stage, Catterall Group III or IV, and who were followed-up to full skeletal maturity were included in the study. We measured mechanical axis deviation percentage and hip-knee-ankle angle for femorotibial alignment, and mechanical lateral distal femoral angle and medial proximal tibial angle (mMPTA) for knee orientation on teleoroentgenograms and compared the affected and normal limbs. Results: All measurements, excluding the mMPTA, demonstrated a tendency of relative genu valgum versus the opposite normal limbs. This tendency was observed in both groups. There was no statistically significant difference between the two groups. Conclusion: Genu valgum occurred in 66% to 70% of the LCPD patients. Four factors were found to be significantly correlated with valgus shift: increased medial bowing of the femoral neck, decreased acetabulum head index, coxa magna, and limb shortening. Multivariate regression analysis identified limb shortening as the factor most responsible for valgus shift.
Acetabulum ; Axis, Cervical Vertebra ; Extremities* ; Femur Neck ; Genu Valgum* ; Head ; Hip ; Humans ; Knee ; Legg-Calve-Perthes Disease* ; Orthotic Devices ; Osteotomy